Bare Lymphocyte Syndrome, Type I disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BRL011 MIFTS: 44	Bare Lymphocyte Syndrome, Type I Categories: Genetic diseases, Rare diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type I:

Name: Bare Lymphocyte Syndrome, Type I ⁵⁷ ¹³ ⁷³

Hla Class I Deficiency ⁵⁷ ¹² ²⁵ ⁷⁵ ⁵⁵

Bare Lymphocyte Syndrome Type I ¹² ²⁵

Mhc Class I Deficiency ¹² ¹⁵

Bls, Type I ⁵⁷ ¹²

Bare Lymphocyte Syndrome, Type I, Due to Tap2 Deficiency ⁵⁷

Major Histocompatibility Complex Class 1 Deficiency ⁵³

Bare Lymphocyte Syndrome 1 ⁷⁵

Mhc Class 1 Deficiency ⁵³

Bls Type I ⁷⁵

Bls I ⁷⁵

Blsi ¹²

Bls1 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
reduced life expectancy

HPO:

³²

bare lymphocyte syndrome, type i:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Combined immunodeficiencies

Major histocompatibility complex class I deficiency

External Ids:

OMIM ⁵⁷ 604571

Disease Ontology ¹² DOID:0060009

MedGen ⁴² C1858266

MeSH ⁴⁴ D007153

ICD10 ³³ D81.6

SNOMED-CT via HPO ⁶⁹ 258211005 21186006 74969002 more

UMLS ⁷³ C1858266

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Summaries for Bare Lymphocyte Syndrome, Type I

Genetics Home Reference : ²⁵ Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.

MalaCards based summary : Bare Lymphocyte Syndrome, Type I, also known as hla class i deficiency, is related to bare lymphocyte syndrome, type ii and orbital melanoma. An important gene associated with Bare Lymphocyte Syndrome, Type I is TAPBP (TAP Binding Protein), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include lung and skin, and related phenotypes are chronic otitis media and ectopia lentis

UniProtKB/Swiss-Prot : ⁷⁵ Bare lymphocyte syndrome 1: A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract.

Description from OMIM: 604571

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Related Diseases for Bare Lymphocyte Syndrome, Type I

Diseases related to Bare Lymphocyte Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)

#	Related Disease	Score	Top Affiliating Genes
1	bare lymphocyte syndrome, type ii	30.4	RFX5 RFXANK RFXAP TAP2
2	orbital melanoma	10.8	TAP1 TAPBP
3	cardiac sarcoidosis	10.7	TAP1 TAP2
4	immunodeficiency by defective expression of hla class 1	10.6	TAP1 TAP2 TAPBP
5	spondylitis	10.4	MICA TAP1 TAP2
6	apple allergy	10.4	CXCL11 IL4
7	encapsulated thymoma	10.3	MME MUC5B
8	common wart	10.3	CD40 CD80
9	immunodeficiency with hyper-igm, type 1	10.2	CD40 IL4
10	cll/sll	10.2	MME ZAP70
11	mature b-cell neoplasm	10.1	CD40 MME RFXANK
12	type i	10.0
13	melanoma	9.9
14	panbronchiolitis, diffuse	9.9
15	lung cancer susceptibility 3	9.8
16	adenocarcinoma	9.8
17	jak3-deficient severe combined immunodeficiency	9.8	IL15 IL4
18	follicular lymphoma	9.8	CD40 CD80 MME
19	immune deficiency disease	9.7	CD40 IL4 RFX5 RFXANK RFXAP
20	autoimmune disease	9.5	CD40 CD80 IL4 ZAP70
21	graves' disease	9.4	CD40 CD80 IL4
22	leukemia, chronic lymphocytic	9.4	CD40 CD80 IL4 ZAP70
23	multiple sclerosis	9.3	CD40 CD80 CXCL11 IL4
24	eosinophilic gastritis	9.2	IL15 IL4
25	severe combined immunodeficiency	9.0	IL15 IL4 RFX5 RFXAP ZAP70
26	combined immunodeficiency, x-linked	8.4	CD40 IL15 IL4 RFX5 RFXANK RFXAP

Graphical network of the top 20 diseases related to Bare Lymphocyte Syndrome, Type I:

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Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type I

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
chronic otitis media

Head And Neck Eyes:
ectopia lentis

Respiratory Airways:
bronchitis
bronchial obstruction
unilateral bronchiectasis
bilateral bronchiectasis
bronchiolitis
more

Laboratory Abnormalities:
normal cd8+/cd4+ ratio

Respiratory Lung:
emphysema

Head And Neck Nose:
nasal polyposis
chronic sinusitis
pansinusitis

Skin Nails Hair Skin:
pigmentary abnormalities
localized cutaneous necrobiosis lipoidica
deep skin ulcers

Clinical features from OMIM:

604571

Human phenotypes related to Bare Lymphocyte Syndrome, Type I:

³² (show all 9)

#	Description	HPO Source Accession
1	chronic otitis media ³²	HP:0000389
2	ectopia lentis ³²	HP:0001083
3	emphysema ³²	HP:0002097
4	bronchiectasis ³²	HP:0002110
5	recurrent bronchitis ³²	HP:0002837
6	chronic sinusitis ³²	HP:0011109
7	bronchiolitis ³²	HP:0011950
8	nasal polyposis ³²	HP:0100582
9	skin ulcer ³²	HP:0200042

MGI Mouse Phenotypes related to Bare Lymphocyte Syndrome, Type I:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.73	CD40 CD80 IL15 IL4 KLRC1 MUC5B
2	immune system	MP:0005387	9.47	PDLIM7 SLAMF6 TAP1 TAP2 TAPBP ZAP70

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Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type I

Search Clinical Trials , NIH Clinical Center for Bare Lymphocyte Syndrome, Type I

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Genetic Tests for Bare Lymphocyte Syndrome, Type I

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Anatomical Context for Bare Lymphocyte Syndrome, Type I

MalaCards organs/tissues related to Bare Lymphocyte Syndrome, Type I:

⁴¹

Lung, Skin

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Publications for Bare Lymphocyte Syndrome, Type I

Articles related to Bare Lymphocyte Syndrome, Type I:

#	Title	Authors	Year
1	HLA class I deficiency syndrome mimicking Wegener's granulomatosis. ( 18668571 )	Villa-Forte A....Zimmer J.	2008
2	Clinical and immunological aspects of HLA class I deficiency. ( 16087697 )	Zimmer J....de la Salle H.	2005
3	Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. ( 11587107 )	Azuma A....Kudoh S.	2001
4	HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1. ( 10074495 )	de la Salle H....Hanau D.	1999
5	Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). ( 9952025 )	Furukawa H....Juji T.	1999
6	Markedly decreased expression of TAP1 and LMP2 genes in HLA class I-deficient human tumor cell lines. ( 8803612 )	Singal D.P....Snider D.P.	1996
7	Homozygous human TAP peptide transporter mutation in HLA class I deficiency. ( 7517574 )	de la Salle H....Tongio M.-M.	1994
8	A member of the tetra spans transmembrane protein superfamily is recognized by a monoclonal antibody raised against an HLA class I-deficient, lymphokine-activated killer-susceptible, B lymphocyte line. Cloning and preliminary functional studies. ( 1573270 )	Gil M.L....Ferrara P.	1992

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Genes for Bare Lymphocyte Syndrome, Type I

Genes related to Bare Lymphocyte Syndrome, Type I (3 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TAPBP	TAP Binding Protein	Protein Coding	925.99	Molecular basis known ⁵⁷ Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	12149238 12149238
2	TAP1	Transporter 1, ATP Binding Cassette Subfamily B Member	Protein Coding	925.57	Molecular basis known ⁵⁷ Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	10074494 3891604 10074495
3	TAP2	Transporter 2, ATP Binding Cassette Subfamily B Member	Protein Coding	900	Molecular basis known ⁵⁷ Pathogenic ⁶	7517574 10560675
4	RFXAP	Regulatory Factor X Associated Protein	Protein Coding	16.48	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	RFX5	Regulatory Factor X5	Protein Coding	16.28	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	KLRC1	Killer Cell Lectin Like Receptor C1	Protein Coding	15.04	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	RFXANK	Regulatory Factor X Associated Ankyrin Containing Protein	Protein Coding	14.95	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	CD40	CD40 Molecule	Protein Coding	14.53	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	CXCL11	C-X-C Motif Chemokine Ligand 11	Protein Coding	14.48	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	MICA	MHC Class I Polypeptide-Related Sequence A	Protein Coding	14.4	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	ZAP70	Zeta Chain Of T Cell Receptor Associated Protein Kinase 70	Protein Coding	14.33	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	MUC5B	Mucin 5B, Oligomeric Mucus/Gel-Forming	Protein Coding	14.28	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	IL4	Interleukin 4	Protein Coding	13.85	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	PDLIM7	PDZ And LIM Domain 7	Protein Coding	13.57	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
15	MME	Membrane Metalloendopeptidase	Protein Coding	13.31	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
16	SLAMF6	SLAM Family Member 6	Protein Coding	7.35	GeneCards inferred via : Publications (show sections)
17	LILRB1	Leukocyte Immunoglobulin Like Receptor B1	Protein Coding	5.54	DISEASES inferred ¹⁵
18	KLRD1	Killer Cell Lectin Like Receptor D1	Protein Coding	4.9	DISEASES inferred ¹⁵
19	IL15	Interleukin 15	Protein Coding	4.02	DISEASES inferred ¹⁵
20	CD80	CD80 Molecule	Protein Coding	3.68	DISEASES inferred ¹⁵

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Variations for Bare Lymphocyte Syndrome, Type I

ClinVar genetic disease variations for Bare Lymphocyte Syndrome, Type I:

⁶

(show top 50) (show all 162)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TAPBP	TAPBP, 7.4-KB DEL	deletion	Pathogenic
2	TAP2	TAP2, ARG253TER	single nucleotide variant	Pathogenic
3	TAP2	TAP2, 1-BP DEL	deletion	Pathogenic
4	TAP1	TAP1, IVS1, G-A, -1	single nucleotide variant	Pathogenic
5	TAP2	NM_000544.3(TAP2): c.44T> C (p.Val15Ala)	single nucleotide variant	Benign/Likely benign	rs55827768	GRCh37	Chromosome 6, 32805967: 32805967
6	TAP2	NM_000544.3(TAP2): c.44T> C (p.Val15Ala)	single nucleotide variant	Benign/Likely benign	rs55827768	GRCh38	Chromosome 6, 32838190: 32838190
7	TAP2	NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile)	indel	Benign	rs369909014	GRCh37	Chromosome 6, 32798457: 32798458
8	TAP2	NM_000544.3(TAP2): c.1398_1399delGGinsAA (p.Val467Ile)	indel	Benign	rs369909014	GRCh38	Chromosome 6, 32830680: 32830681
9	TAP2	NM_000544.3(TAP2): c.1147C> T (p.Leu383=)	single nucleotide variant	Likely benign	rs761704456	GRCh37	Chromosome 6, 32800235: 32800235
10	TAP2	NM_000544.3(TAP2): c.1147C> T (p.Leu383=)	single nucleotide variant	Likely benign	rs761704456	GRCh38	Chromosome 6, 32832458: 32832458
11	TAP2	NM_000544.3(TAP2): c.918G> A (p.Ala306=)	single nucleotide variant	Benign	rs556799828	GRCh37	Chromosome 6, 32802958: 32802958
12	TAP2	NM_000544.3(TAP2): c.918G> A (p.Ala306=)	single nucleotide variant	Benign	rs556799828	GRCh38	Chromosome 6, 32835181: 32835181
13	TAP2	NM_000544.3(TAP2): c.658C> A (p.Arg220=)	single nucleotide variant	Benign	rs142794316	GRCh37	Chromosome 6, 32803501: 32803501
14	TAP2	NM_000544.3(TAP2): c.658C> A (p.Arg220=)	single nucleotide variant	Benign	rs142794316	GRCh38	Chromosome 6, 32835724: 32835724
15	TAP2	NM_000544.3(TAP2): c.222C> A (p.Pro74=)	single nucleotide variant	Benign	rs2229526	GRCh37	Chromosome 6, 32805789: 32805789
16	TAP2	NM_000544.3(TAP2): c.222C> A (p.Pro74=)	single nucleotide variant	Benign	rs2229526	GRCh38	Chromosome 6, 32838012: 32838012
17	TAP1	NM_000593.5(TAP1): c.2163G> A (p.Pro721=)	single nucleotide variant	Benign	rs41551515	GRCh38	Chromosome 6, 32847125: 32847125
18	TAP1	NM_000593.5(TAP1): c.2163G> A (p.Pro721=)	single nucleotide variant	Benign	rs41551515	GRCh37	Chromosome 6, 32814902: 32814902
19	TAP1	NM_000593.5(TAP1): c.919G> A (p.Gly307Arg)	single nucleotide variant	Uncertain significance	rs59328013	GRCh38	Chromosome 6, 32852214: 32852214
20	TAP1	NM_000593.5(TAP1): c.919G> A (p.Gly307Arg)	single nucleotide variant	Uncertain significance	rs59328013	GRCh37	Chromosome 6, 32819991: 32819991
21	TAP1	NM_000593.5(TAP1): c.229G> C (p.Gly77Arg)	single nucleotide variant	Benign	rs57640466	GRCh38	Chromosome 6, 32853588: 32853588
22	TAP1	NM_000593.5(TAP1): c.229G> C (p.Gly77Arg)	single nucleotide variant	Benign	rs57640466	GRCh37	Chromosome 6, 32821365: 32821365
23	TAPBP	NM_003190.4(TAPBP): c.972G> A (p.Gly324=)	single nucleotide variant	Benign	rs61739590	GRCh38	Chromosome 6, 33304535: 33304535
24	TAPBP	NM_003190.4(TAPBP): c.972G> A (p.Gly324=)	single nucleotide variant	Benign	rs61739590	GRCh37	Chromosome 6, 33272312: 33272312
25	TAPBP	NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser)	single nucleotide variant	Uncertain significance	rs561629511	GRCh38	Chromosome 6, 33305295: 33305295
26	TAPBP	NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser)	single nucleotide variant	Uncertain significance	rs561629511	GRCh37	Chromosome 6, 33273072: 33273072
27	TAP2	NM_000544.3(TAP2): c.1826C> T (p.Ala609Val)	single nucleotide variant	Benign	rs74770812	GRCh37	Chromosome 6, 32797283: 32797283
28	TAP2	NM_000544.3(TAP2): c.1826C> T (p.Ala609Val)	single nucleotide variant	Benign	rs74770812	GRCh38	Chromosome 6, 32829506: 32829506
29	TAP2	NM_000544.3(TAP2): c.1161G> A (p.Val387=)	single nucleotide variant	Benign	rs2856992	GRCh37	Chromosome 6, 32800221: 32800221
30	TAP2	NM_000544.3(TAP2): c.1161G> A (p.Val387=)	single nucleotide variant	Benign	rs2856992	GRCh38	Chromosome 6, 32832444: 32832444
31	TAP2	NM_000544.3(TAP2): c.1144-6_1144-5delinsAC	indel	Benign	rs386699797	GRCh37	Chromosome 6, 32800243: 32800244
32	TAP2	NM_000544.3(TAP2): c.1144-6_1144-5delinsAC	indel	Benign	rs386699797	GRCh38	Chromosome 6, 32832466: 32832467
33	TAP2	NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr)	single nucleotide variant	Benign	rs111303994	GRCh37	Chromosome 6, 32800427: 32800427
34	TAP2	NM_000544.3(TAP2): c.1120G> A (p.Ala374Thr)	single nucleotide variant	Benign	rs111303994	GRCh38	Chromosome 6, 32832650: 32832650
35	TAP2	NM_000544.3(TAP2): c.4C> T (p.Arg2Trp)	single nucleotide variant	Benign	rs61736918	GRCh38	Chromosome 6, 32838230: 32838230
36	TAP2	NM_000544.3(TAP2): c.4C> T (p.Arg2Trp)	single nucleotide variant	Benign	rs61736918	GRCh37	Chromosome 6, 32806007: 32806007
37	TAP1	NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln)	single nucleotide variant	Benign	rs1057149	GRCh38	Chromosome 6, 32847165: 32847165
38	TAP1	NM_000593.5(TAP1): c.2123G> A (p.Arg708Gln)	single nucleotide variant	Benign	rs1057149	GRCh37	Chromosome 6, 32814942: 32814942
39	TAP1	NM_000593.5(TAP1): c.1732G> A (p.Val578Ile)	single nucleotide variant	Benign	rs41561219	GRCh38	Chromosome 6, 32848666: 32848666
40	TAP1	NM_000593.5(TAP1): c.1732G> A (p.Val578Ile)	single nucleotide variant	Benign	rs41561219	GRCh37	Chromosome 6, 32816443: 32816443
41	TAP1	NM_000593.5(TAP1): c.1552G> T (p.Val518Leu)	single nucleotide variant	Benign	rs41550019	GRCh38	Chromosome 6, 32848995: 32848995
42	TAP1	NM_000593.5(TAP1): c.1552G> T (p.Val518Leu)	single nucleotide variant	Benign	rs41550019	GRCh37	Chromosome 6, 32816772: 32816772
43	TAP1	NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys)	single nucleotide variant	Benign	rs2228110	GRCh38	Chromosome 6, 32849112: 32849112
44	TAP1	NM_000593.5(TAP1): c.1435G> T (p.Gly479Cys)	single nucleotide variant	Benign	rs2228110	GRCh37	Chromosome 6, 32816889: 32816889
45	TAP1	NM_000593.5(TAP1): c.1300A> T (p.Met434Leu)	single nucleotide variant	Uncertain significance	rs779844691	GRCh38	Chromosome 6, 32850448: 32850448
46	TAP1	NM_000593.5(TAP1): c.1300A> T (p.Met434Leu)	single nucleotide variant	Uncertain significance	rs779844691	GRCh37	Chromosome 6, 32818225: 32818225
47	TAP1	NM_000593.5(TAP1): c.1289C> T (p.Ala430Val)	single nucleotide variant	Benign	rs2127679	GRCh37	Chromosome 6, 32818236: 32818236
48	TAP1	NM_000593.5(TAP1): c.1289C> T (p.Ala430Val)	single nucleotide variant	Benign	rs2127679	GRCh38	Chromosome 6, 32850459: 32850459
49	TAP1	NM_000593.5(TAP1): c.942C> T (p.Gly314=)	single nucleotide variant	Benign	rs41549617	GRCh38	Chromosome 6, 32852191: 32852191
50	TAP1	NM_000593.5(TAP1): c.942C> T (p.Gly314=)	single nucleotide variant	Benign	rs41549617	GRCh37	Chromosome 6, 32819968: 32819968

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Expression for Bare Lymphocyte Syndrome, Type I

Search GEO for disease gene expression data for Bare Lymphocyte Syndrome, Type I.

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Pathways for Bare Lymphocyte Syndrome, Type I

Pathways related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.79	CD40 CD80 IL15 IL4 KLRC1 KLRD1
2	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁶	13.18	CD40 CD80 KLRC1 KLRD1 LILRB1 MICA
3	NF-kappaB Signaling ⁴	12.39	IL4 LILRB1 TAP1 TAP2 ZAP70
4	Immune response Role of DAP12 receptors in NK cells ²² Show member pathways Immune response CD16 signaling in NK cells ²² Natural killer cell mediated cytotoxicity ³⁷	12.33	IL4 KLRC1 KLRD1 MICA ZAP70
5	Allograft rejection ¹ ³⁷ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.24	CD40 CD80 CXCL11 IL15 IL4 KLRC1
6	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.87	CD80 IL15 IL4 KLRC1 MME
7	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	11.76	CD40 KLRC1 KLRD1 LILRB1 MICA SLAMF6
8	Innate Lymphoid Cell Differentiation Pathways ⁶⁵	11.59	IL15 IL4 KLRD1
9	B Cell Development Pathways ⁶⁵	11.4	CD40 CD80 MME
10	Inflammatory Response Pathway ¹	11.19	CD40 CD80 IL4 ZAP70
11	Primary immunodeficiency ³⁷	11.07	CD40 RFX5 RFXANK RFXAP TAP1 TAP2
12	Antigen Presentation- Folding, assembly and peptide loading of class I MHC ⁶⁶	11.01	TAP1 TAP2 TAPBP

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GO Terms for Bare Lymphocyte Syndrome, Type I

Cellular components related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	external side of plasma membrane	GO:0009897	9.56	CD40 CD80 KLRD1 LILRB1
2	phagocytic vesicle membrane	GO:0030670	9.33	TAP1 TAP2 TAPBP
3	endoplasmic reticulum-Golgi intermediate compartment membrane	GO:0033116	9.13	TAP1 TAP2 TAPBP
4	TAP complex	GO:0042825	8.8	TAP1 TAP2 TAPBP

Biological processes related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	immune system process	GO:0002376	9.97	CD40 SLAMF6 TAP1 TAP2 ZAP70
2	adaptive immune response	GO:0002250	9.86	LILRB1 TAP1 TAP2 ZAP70
3	immune response	GO:0006955	9.8	CD40 CD80 CXCL11 IL15 IL4 TAPBP
4	cellular response to lipopolysaccharide	GO:0071222	9.76	CD40 CD80 LILRB1
5	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	GO:0002479	9.7	TAP1 TAP2 TAPBP
6	positive regulation of T cell proliferation	GO:0042102	9.67	CD80 IL15 IL4
7	B cell activation	GO:0042113	9.63	CD40 IL4 ZAP70
8	antigen processing and presentation of peptide antigen via MHC class I	GO:0002474	9.61	TAP1 TAP2 TAPBP
9	positive regulation of T cell differentiation	GO:0045582	9.58	IL4 ZAP70
10	positive regulation of interleukin-17 production	GO:0032740	9.55	IL15 SLAMF6
11	dendritic cell differentiation	GO:0097028	9.54	IL4 LILRB1
12	positive regulation of isotype switching to IgG isotypes	GO:0048304	9.51	CD40 IL4
13	peptide transport	GO:0015833	9.5	TAP1 TAP2 TAPBP
14	negative regulation of natural killer cell mediated cytotoxicity	GO:0045953	9.48	LILRB1 MICA
15	cytosol to ER transport	GO:0046967	9.4	TAP1 TAP2
16	amide transport	GO:0042886	9.37	TAP1 TAPBP
17	antigen processing and presentation of endogenous peptide antigen via MHC class I	GO:0019885	9.33	TAP1 TAP2 TAPBP
18	regulation of immune response	GO:0050776	9.17	CD40 IL4 KLRC1 KLRD1 LILRB1 MICA
19	vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	GO:1990668	9.13	TAP1 TAP2 TAPBP

Molecular functions related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	MHC protein binding	GO:0042287	9.49	TAP1 TAP2
2	protein antigen binding	GO:1990405	9.48	KLRC1 KLRD1
3	peptide-transporting ATPase activity	GO:0015440	9.46	TAP1 TAP2
4	peptide transmembrane transporter activity	GO:1904680	9.43	TAP1 TAP2
5	MHC class Ib protein binding	GO:0023029	9.4	TAP1 TAP2
6	TAP2 binding	GO:0046979	9.37	TAP1 TAPBP
7	MHC class I protein binding	GO:0042288	9.33	LILRB1 TAP1 TAPBP
8	MHC class I protein complex binding	GO:0023024	9.32	KLRC1 KLRD1
9	TAP1 binding	GO:0046978	9.13	TAP1 TAP2 TAPBP
10	peptide antigen-transporting ATPase activity	GO:0015433	8.8	TAP1 TAP2 TAPBP
11	protein binding	GO:0005515	10.23	CD40 CD80 CXCL11 IL15 IL4 KLRC1

Sources

Sources for Bare Lymphocyte Syndrome, Type I

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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¹⁰ dbSNP

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¹² Disease Ontology

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¹⁶ DrugBank

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

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³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

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⁴² MedGen

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

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⁶² PubMed

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⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia